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Results: 21 to 40 of 80

Tests names and labsConditionsGenes, analytes, and microbesMethods

Holocarboxylase synthetase deficiency, 253270, Autosomal recessive (Holocarboxylase synthetase deficiency) (HLCS gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Invitae Hyperammonemia Panel

Invitae
United States
7572
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Holocarboxylase Synthetase Deficiency

Myriad Genetics, Inc.
United States
11
  • C Sequence analysis of the entire coding region

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
289481
  • C Sequence analysis of the entire coding region

Invitae Treatable Neurometabolic Disorders Panel

Invitae
United States
257191
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Invitae Metabolic Newborn Screening Confirmation Panel

Invitae
United States
201158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Elevated C3 Panel

Invitae
United States
1519
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Elevated C5-OH Panel

Invitae
United States
1715
  • D Deletion/duplication analysis

Invitae Organic Acidemias Panel

Invitae
United States
10897
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

HLCS Sequence Analysis

Baylor Genetics
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

HLCS Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

HLCS Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HLCS Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

Holocarboxylase Synthetase Deficiency via the HLCS Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Organic Acid Screen - Urine

Baylor Genetics
United States
1945
  • A Analyte

Acylcarnitine Analysis - Plasma

Baylor Genetics
United States
2327
  • A Analyte

Holocarboxylase Synthetase Deficiency - HLCS Del/Dup Analysis

Children's Hospital Colorado Precision Diagnostics Laboratory Children's Hospital Colorado
United States
11
  • D Deletion/duplication analysis

Results: 21 to 40 of 80

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.